A Roslindale family is hoping their GoFundMe campaign can save their son’s life
On May 12, Sam and Taylor Sabky received heartbreaking news: Their son, Purnell, was diagnosed with Niemann-Pick TypeA, a rare and fatal genetic disease with no treatment options. Most children with Niemann-Pick Type A die in early infancy.
“When we left that appointment, essentially we left with no hope,” Sam said. “It was kind of a death sentence.”
But after learning that research into treatment options is further along than they initially thought – and that the biggest obstacle standing in the way is funding – the Sabkys decided to create a GoFundMe, with 100 percent of the proceeds going toward funding research into gene therapy, the most promising treatment option for Niemann-Pick Type A.
The campaign went viral, and they’ve managed to raise more than $314,000 in 10 days, with a goal of $750,000 raised by the end of June. Now, they’re not feeling hopeless anymore.
“We have so many people working on his behalf, on our behalf, in many unexpected places, and we’re so appreciative to have the support of everyone and the response that we’ve received,” Taylor said. “I mean, it really makes this feel like it’s possible and gives us hope and renews your faith in humanity.”
Niemann-Pick Type A is a lysosomal storage disease, a type of disease that occurs when toxic materials build up in the cells, as a result of enzyme deficiencies. With Niemann-Pick Type A, symptoms include enlargement of the liver and spleen, and failure to gain weight.
Typically, children diagnosed with Niemann-Pick Type A have a plateau period, which begins around 8 or 9 months and lasts until they are between 18-20 months old. During this time, children appear to be interacting normally and possibly even learning some new skills.
“Often, after that time, they’ll have progressive neurological deterioration, where they really have a hard time interacting,” said Dr. Melissa Wasserstein, a Niemann-Pick specialist at the Children’s Hospital at Montefiore in New York City. “They lose their focus. They’re progressively weaker.”
Most children with Niemann-Pick Type A die between 2 and 3 years of age, according to Wasserstein.
The Sabky family first learned of potential treatment options when they connected with Steve Lafoon. Lafoon is president of the Wylder Nation Foundation, an Arizona-based organization dedicated to accelerating the discovery and development of treatment options for Niemann-Pick Type A.
Lafoon’s son, Wylder, was diagnosed with Niemann-Pick Type A in 2009 and passed away in 2012. Lafoon said it was difficult for him to grasp not having any treatment options for Wylder, and that’s part of what inspired him to start the foundation.
“When you’re given a diagnosis, and the only option you’re told is to go home and enjoy the short amount of time you’re going to have, it’s just something I had a really hard time getting my head around, not having any options,” he said. “So that was our whole premise. We feel that everybody deserves some sort of option moving forward.”
According to Lafoon, the most promising treatment option is gene therapy, which is under research at University of California, San Fransisco’s Bankiewicz Lab. In order to complete their research and send the treatment option to a clinical trial, the lab has to first build a clinical vector.
“[The vector] is basically just a harmless virus that doses a healthy gene to Purnell’s brain, pretty much replacing the malfunctioning one,” Sam said.
But funding is preventing this step from moving forward. The Wylder Nation Foundation has been providing funding to the lab, but researchers need more in order to build the vector. All of the donations to the Sabkys’ GoFundMe page will go to the Wylder Nation Foundation, which will use it to continue financing the lab’s research. And since the treatment still has to be approved by the FDA, timing, Sam says, is critical.
“The timing really could line up, which is just so fantastic, but it’s really a matter of, as soon as the funds are available for that vector, it’s going to go right to the lab, and they’re going to order and build the vector, and then we can get started,” Sam said.
The Sabkys have been overwhelmed by the support they’ve received a wealth of different sources. They’ve found strength within the Niemann-Pick Type A community, who have shared Purnell’s story, as well as from Taylor’s students at Boston International High School in Dorchester, who have made signs and posters with words of encouragement and inspirational messages for Purnell.
“We have everyone in our corner rooting on a cure for this disease,” Taylor said.
Taylor Sabky, center, with her students at Boston International High School in Dorchester.
In the meantime, they’re enjoying every second they have with Purnell, planning vacations and attending weddings, to create lasting memories with their son.
“The only thing that has really changed is that when we sit down, we’re really soaking in the time and being so much more appreciative of him, of the time we have with him,” Sam said. “Something like this puts stuff in perspective, so we have a lot more gratitude.”
